Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194378 | SCV000247239 | likely benign | not specified | 2015-02-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194378 | SCV000524068 | likely benign | not specified | 2017-11-16 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001081707 | SCV000660400 | benign | DYRK1A-related intellectual disability syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711515 | SCV000841892 | benign | not provided | 2018-04-27 | criteria provided, single submitter | clinical testing |